GSTP1 I105V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

GSTP1 I105V

(GSTP1 Ile105Val)


Short summary

Hematological toxicity with fluoruracil.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr11:67352689: 36.0% (3710/10318) in EVS
  • G @ chr11:67109264: 31.0% (39/126) in GET-Evidence
  • Frequency shown in summary reports: 36.0% (3710/10318)

Publications
 

Agostini M, Pasetto LM, Pucciarelli S, Terrazzino S, Ambrosi A, Bedin C, Galdi F, Friso ML, Mescoli C, Urso E, Leon A, Lise M, Nitti D. Glutathione S-transferase P1 Ile105Val polymorphism is associated with haematological toxicity in elderly rectal cancer patients receiving preoperative chemoradiotherapy. Drugs Aging. 2008;25(6):531-9. PubMed PMID: 18540691.

 

Khrunin AV, Moisseev A, Gorbunova V, Limborska S. Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients. Pharmacogenomics J. 2010 Feb;10(1):54-61. Epub 2009 Sep 29. PubMed PMID: 19786980.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr11:67352689

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr11:67352689

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr11:67352689

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr11:67352689

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr11:67352689

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr11:67352689

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr11:67352689

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr11:67352689

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr11:67352689

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr11:67352689

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr11:67352689

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr11:67352689

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom G @ chr11:67352689

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr11:67352689

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr11:67352689

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr11:67352689

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr11:67352689

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr11:67109265

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr11:67109265

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr11:67109265

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr11:67109265

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr11:67109265

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr11:67109265

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr11:67109265

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr11:67109265

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr11:67109265

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr11:67109265

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr11:67109265

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr11:67109265

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr11:67109265

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr11:67109265

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr11:67109265

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr11:67109265

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr11:67109265

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr11:67109265

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr11:67109265

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr11:67109265

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr11:67109265

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr11:67109265

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr11:67109265

 

Other external references
 

    dbSNP
  • rs1695
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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